Works matching DE "X-linked genetic disorders"

Results: 733

VEXAS Syndrome: An Overlooked Threat.

Published in:

Balkan Medical Journal, 2025, v. 42, n. 3, p. 185, doi. 10.4274/balkanmedj.galenos.2025.2025-170425

By:

Uğurlu, Serdal;
Kılıç, Berkay

Publication type:

Article

Fabry disease as a trigger of immune-mediated glomerular disease: Clinical hypotheses and literature review.

Published in:

Nefrologia, 2025, v. 45, n. 5, p. 401, doi. 10.1016/j.nefro.2025.01.003

By:

de Victoria Carazo, Javier Martínez;
Marin, Haylen;
De la Hera Fernández, Francisco Javier;
Mañero Rodríguez, Carlos;
Ramírez Tortosa, César;
Callejas Rubio, José Luís

Publication type:

Article

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

Published in:

Child's Nervous System, 2015, v. 31, n. 7, p. 1181, doi. 10.1007/s00381-015-2704-8

By:

Salinas-Torres, Victor

Publication type:

Article

Establishing a natural history of X-linked dystonia parkinsonism.

Published in:

Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad106

By:

Acuna, Patrick;
Supnet-Wells, Melanie Leigh;
Spencer, Neil A.;
de Guzman, Jan Kristoper;
Russo, Massimiliano;
Hunt, Ann;
Stephen, Christopher;
Go, Criscely;
Carr, Samuel;
Ganza, Niecy Grace;
Lagarde, John Benedict;
Begalan, Shin;
Multhaupt-Buell, Trisha;
Aldykiewicz, Gabrielle;
Paul, Lisa;
Ozelius, Laurie;
Bragg, D. Cristopher;
Perry, Bridget;
Green, Jordan R.;
Miller, Jeffrey W.

Publication type:

Article

Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac086

By:

Hamilton, Amber A;
Faitos, Susan;
Jones, Gin;
Kinsley, Athina;
Gupta, Rupal Naik;
Lewiecki, E Michael

Publication type:

Article

Rectifying or Reinforcing? The (In)Equity Implications of Recontacting Practices in Genomic Medicine.

Published in:

Hastings Center Report, 2024, v. 54, p. S22, doi. 10.1002/hast.4926

By:

Mackley, Michael P.;
Faghfoury, Hanna;
Chad, Lauren

Publication type:

Article

We Have Seen the Mutants—and They Are Us: Gifts and Burdens of a Genetic Diagnosis.

Published in:

Hastings Center Report, 2020, v. 50, p. S44, doi. 10.1002/hast.1155

By:

Kittay, Eva Feder

Publication type:

Article

Single‐Gene Sequencing in Newborn Screening: Success, Challenge, Hope.

Published in:

Hastings Center Report, 2018, v. 48, p. S37, doi. 10.1002/hast.883

By:

Currier, Robert J.

Publication type:

Article

Identification of a novel microdeletion causative of Nance‐Horan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1879

By:

Lopez Martinolich, Mariana;
Northrup, Hope;
Mancias, Pedro;
Hillman, Paul;
Rao, Kavya;
Mowrey, Kate

Publication type:

Article

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1430

By:

Wei, Lei;
Fang, Ye;
Cao, Guanghai;
Zhang, Shufeng;
Tian, Ming;
Shen, Qian;
Xu, Hong;
Liu, Cuihua;
Rao, Jia

Publication type:

Article

Assessing risk for Mendelian disorders in a Bronx population.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 516, doi. 10.1002/mgg3.307

By:

diSibio, Guy;
Upadhyay, Kinnari;
Meyer, Philip;
Oddoux, Carole;
Ostrer, Harry

Publication type:

Article

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 273, doi. 10.1002/mgg3.202

By:

Méndez, Manuel;
Moreno‐Carralero, María‐Isabel;
Morado‐Arias, Marta;
Fernández‐Jiménez, María‐Cristina;
Iglesia Iñigo, Silvia;
Morán‐Jiménez, María‐José

Publication type:

Article

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 344, doi. 10.1002/mgg3.208

By:

Freund, Paul R.;
Sergeev, Yuri V.;
MacDonald, Ian M.

Publication type:

Article

Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 95, doi. 10.1002/mgg3.183

By:

Li, Bijun;
Zhou, Tianhong;
Zou, Yi

Publication type:

Article

Terminal osseous dysplasia with pigmentary defects ( TODPD) due to a recurrent filamin A ( FLNA) mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 467, doi. 10.1002/mgg3.90

By:

Brunetti‐Pierri, Nicola;
Torrado, Maria;
Fernandez, Maria del Carmen;
Tello, Ana Maria;
Arberas, Claudia L.;
Cardinale, Antonella;
Piccolo, Pasquale;
Bacino, Carlos A.

Publication type:

Article

<italic>FOXP3</italic> mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 3, p. 388, doi. 10.1111/pedi.12612

By:

Hwang, Jessica L.;
Park, Soo‐Young;
Ye, Honggang;
Sanyoura, May;
Pastore, Ashley N.;
Carmody, David;
del Gaudio, Daniela;
Wilson, Janna F.;
Hanis, Craig L.;
Liu, Xiaoming;
Atzmon, Gil;
Glaser, Benjamin;
Philipson, Louis H.;
Greeley, Siri Atma W.;
T2D‐Genes Consortium

Publication type:

Article

Recurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti‐including molecular analysis.

Published in:

Australasian Journal of Dermatology, 2022, v. 63, n. 2, p. 258, doi. 10.1111/ajd.13837

By:

Kosidcanasap, Purich;
Tanabodee, Monton;
Bunnag, Thareena;
Chaowalit, Prapaipit;
Puangpet, Pailin;
Supsrisunjai, Chavalit

Publication type:

Article

Cell-free fetal DNA: the new tool in fetal medicine.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 5, p. 499, doi. 10.1002/uog.14746

By:

Everett, T. R.;
Chitty, L. S.

Publication type:

Article

Utility of ATRX immunohistochemistry in diagnosis of adult diffuse gliomas.

Published in:

Histopathology, 2016, v. 69, n. 2, p. 260, doi. 10.1111/his.12927

By:

Ikemura, Masako;
Shibahara, Junji;
Mukasa, Akitake;
Takayanagi, Shunsaku;
Aihara, Koki;
Saito, Nobuhito;
Aburatani, Hiroyuki;
Fukayama, Masashi

Publication type:

Article

Differential nuclear ATRX expression in sarcomas.

Published in:

Histopathology, 2016, v. 68, n. 5, p. 738, doi. 10.1111/his.12812

By:

Koelsche, Christian;
Renner, Marcus;
Johann, Pascal;
Leiss, Irina;
Sahm, Felix;
Schimmack, Simon;
Wardelmann, Eva;
Renker, Eva‐Kristin;
Schirmacher, Peter;
Korshunov, Andrey;
Deimling, Andreas;
Mechtersheimer, Gunhild

Publication type:

Article

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Published in:

2020

By:

Xu, Tao;
Zhao, Qin;
Li, Wenyan;
Chen, Xuemei;
Xue, Xiuhong;
Chen, Zhi;
Du, Xiao;
Bai, Xiaoming;
Zhao, Qian;
Zhou, Lina;
Tang, Xuemei;
Yang, Xi;
Kanegane, Hirokazu;
Zhao, Xiaodong

Publication type:

journal article

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Published in:

2015

By:

Marín, Rosario;
Ley-Martos, Miriam;
Gutiérrez, Gema;
Rodríguez-Sánchez, Felicidad;
Arroyo, Diego;
Mora-López, Francisco;
Marín, Rosario;
Gutiérrez, Gema;
Rodríguez-Sánchez, Felicidad;
Mora-López, Francisco

Publication type:

journal article

Incontinentia pigmenti (Bloch-Siemens syndrome).

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1137, doi. 10.1007/s00431-013-1982-y

By:

Zhang, Yaqin;
Pyla, Venkatesh;
Cong, Xianling

Publication type:

Article

Genodermatoses caused by genetic mosaicism.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 12, p. 1725, doi. 10.1007/s00431-012-1855-9

By:

Vreeburg, M.;
Steensel, M.

Publication type:

Article

A young boy with diffuse hyperpigmentation and delayed puberty.

Published in:

2011

By:

Xian-Ling Wang;
Yi-Ming Mu;
Jing-Tao Dou;
Zhao-Hui Lü;
Bao-An Wang;
Ju-Ming Lu;
Chang-Yu Pan;
Wang, Xian-Ling;
Mu, Yi-Ming;
Dou, Jing-Tao;
Lü, Zhao-Hui;
Wang, Bao-An;
Lu, Ju-Ming;
Pan, Chang-Yu

Publication type:

journal article

Menkes Kinky Hair Disease: Role of Dermatologist.

Published in:

2018

By:

Shah, Bela;
Jagati, Ashish;
Joshi, Rutu

Publication type:

Case Study

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Published in:

Hippokratia, 2013, v. 17, n. 3, p. 207

By:

Pierides, A.;
Voskarides, K.;
Kkolou, M.;
Hadjigavriel, M.;
Deltas, C.

Publication type:

Article

Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.

Published in:

Cancers, 2023, v. 15, n. 6, p. 1872, doi. 10.3390/cancers15061872

By:

Tüysüz, Beyhan;
Bozlak, Serdar;
Uludağ Alkaya, Dilek;
Ocak, Süheyla;
Kasap, Büşra;
Sunamak Çifçi, Evrim;
Seker, Ali;
Bayhan, Ilhan Avni;
Apak, Hilmi

Publication type:

Article

Topoisomerase II plays a role in dosage compensation in Drosophila.

Published in:

Transcription (2154-1264), 2013, v. 4, n. 5, p. 1, doi. 10.4161/trns.26185

By:

Cugusi, Simona;
Ramos, Edward;
Huiping Ling;
Ruth Yokoyama;
Luk, Kevin M.;
Lucchesi, John C.

Publication type:

Article

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Published in:

Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022057

By:

Patricia Migliavacca, Michele;
Ambrosio Fock, Rodrigo;
Almeida, Nadia;
Cavalcanti, Thereza;
Villela, Darine;
Alvarez Perez, Ana Beatriz;
Valle, David;
Wohler, Elizabeth;
Lygia de Macena Sobreira, Nara;
Raskin, Salmo

Publication type:

Article

Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 3, p. 1091, doi. 10.1007/s10803-022-05636-6

By:

Okay, Kaan;
Varış, Pelin Ünal;
Miral, Süha;
Pavlopoulou, Athanasia;
Oktay, Yavuz;
Karakülah, Gökhan

Publication type:

Article

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 5, p. 1651, doi. 10.1007/s10803-017-3420-x

By:

Mori, Yuka;
Downs, Jenny;
Wong, Kingsley;
Heyworth, Jane;
Leonard, Helen

Publication type:

Article

DIAGNOSIS PARTICULARITIES IN DYSTROPHINOPATHIES IN WOMEN.

Published in:

Therapeutics, Pharmacology & Clinical Toxicology, 2015, v. 19, n. 1, p. 12

By:

Anita, Pop;
M., Cornițescu;
Anca, Pleșca Doina

Publication type:

Article

Structural changes of central white matter tracts in Kennedy's disease - a diffusion tensor imaging and voxel-based morphometry study.

Published in:

Acta Neurologica Scandinavica, 2013, v. 127, n. 5, p. 323, doi. 10.1111/ane.12018

By:

Pieper, C. C.;
Konrad, C.;
Sommer, J.;
Teismann, I.;
Schiffbauer, H.

Publication type:

Article

Answer.

Published in:: Journal of Paediatrics & Child Health, 2014, v. 50, n. 11, p. 934, doi. 10.1111/jpc.12562_2
Publication type:: Article

Healthy young child presents with decreased visual acuity.

Published in:

Ocular Surgery News, 2013, v. 31, n. 11, p. 32

By:

Sodhi, Avneet K.;
Reichel, Elias

Publication type:

Article

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Published in:

PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294891

By:

Xuan-Rong Koh, Danny;
Zailani, Mohamed Afiq Hidayat;
Raja Sabudin, Raja Zahratul Azma;
Muniandy, Sanggari;
Muhamad Hata, Nur Awatif Akmal;
Mohd Noor, Siti Noor Baya;
Zakaria, Norhazilah;
Othman, Ainoon;
Ismail, Endom

Publication type:

Article

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.

Published in:

PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0290832

By:

Schweitzer, George G.;
Ditzenberger, Grace L.;
Hughey, Curtis C.;
Finck, Brian N.;
Martino, Michael R.;
Pacak, Christina A.;
Byrne, Barry J.;
Cade, William Todd

Publication type:

Article

Incontinentia Pigmenti In A Male Newborn - A Rare Presentation.

Published in:

2014

By:

Gupta, Reeta;
Langer, Cheena;
Singh, Anita;
Sood, Rohan

Publication type:

Case Study

DISPLASIA ECTODÉRMICA LIGADA AO CROMOSSOMO X -- APLASIA DO FOLÍCULO PILOSO ASSOCIADA À DISPLASIA DENTÁRIA EM CÃO: RELATO DE CASO.

Published in:

2012

By:

DALTRO, SÉRGIO R. T.;
FRANÇA, ROSANE K. N.

Publication type:

Case Study

A Case of McLeod Phenotype of Neuroacanthocytosis Brain MR Features and Literature Review.

Published in:

Neuroradiology Journal, 2013, v. 26, n. 1, p. 21, doi. 10.1177/197140091302600103

By:

Shah, J. R.;
Patkar, D. P.;
Kamat, R. N.

Publication type:

Article

The Role of Cell-Free Fetal DNA as a Preventative Attempt to Decrease the Severity of Genetic Disorders: A Review.

Published in:

Medico-Legal Update, 2021, v. 21, n. 2, p. 18, doi. 10.37506/mlu.v21i2.2638

By:

Sosiawan, Agung;
Kurniati, Mala;
Pramono D., R. M. Coen;
Mulyawan, Indra;
Furqoni, Abdul Hadi;
Nuraini, Indah;
A'yun, Qurrota

Publication type:

Article

Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 2, p. 159, doi. 10.1177/0883073815585577

By:

Peters, Sarika U.;
Byiers, Breanne J.;
Symons, Frank J.

Publication type:

Article

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.

Published in:

2013

By:

Tonduti, Davide;
Vanderver, Adeline;
Berardinelli, Angela;
Schmidt, Johanna L.;
Collins, Christin D.;
Novara, Francesca;
Genni, Antonia Di;
Mita, Alda;
Triulzi, Fabio;
Brunstrom-Hernandez, Janice E.;
Zuffardi, Orsetta;
Balottin, Umberto;
Orcesi, Simona

Publication type:

Case Study

The role of genetic/genomic factors in health, illness and care provision.

Published in:

2013

By:

Tonkin, Emma;
Skirton, Heather

Publication type:

Journal Article

ACADEMY News. Glucose-6-Phosphate Dehydrogenase Deficiency: An Increasing Concern.

Published in:

Neonatal Network, 2015, v. 34, n. 6, p. 365, doi. 10.1891/0730-0832.34.6.365

By:

Ridky, Jody

Publication type:

Article

ACADEMY News. Practice Questions for Certification.

Published in:

Neonatal Network, 2015, v. 34, n. 6, p. 367

By:

Rudd, Kathryn

Publication type:

Article

Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.

Published in:

2017

By:

Jian Wang;
Ying Guo;
Meirong Huang;
Zhen Zhang;
Junxue Zhu;
Tingliang Liu;
Lin Shi;
Fen Li;
Huimin Huang;
Lijun Fu;
Wang, Jian;
Guo, Ying;
Huang, Meirong;
Zhang, Zhen;
Zhu, Junxue;
Liu, Tingliang;
Shi, Lin;
Li, Fen;
Huang, Huimin;
Fu, Lijun

Publication type:

journal article

Reply to Kempf et al.

Published in:

2017

By:

Thorne, L;
Goodfellow, I

Publication type:

journal article

Nitazoxanide Is an Ineffective Treatment of Chronic Norovirus in Patients With X-Linked Agammaglobulinemia and May Yield False-Negative Polymerase Chain Reaction Findings in Stool Specimens.

Published in:

2017

By:

Kempf, Bjoern;
Edgar, J. David;
Mc Caughey, Conall;
Devlin, Lisa A.;
Thorne, L.;
Goodfellow, I.

Publication type:

journal article